InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NPHP1

Summary

InnateDB Protein

IDBP-384501.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NPHP1

Protein Name

nephronophthisis 1 (juvenile)

Synonyms

JBTS4; NPH1; SLSN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000389879

InnateDB Gene

IDBG-65479 (NPHP1)

Protein Structure

UniProt Annotation

Function

Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity). {ECO:0000250}.

Subcellular Localization

Cell junction, adherens junction {ECO:0000250}. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell junction, tight junction. Note=Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme. Localized to the transition zone of respiratory cilia, photoreceptor-connecting cilia and renal monocilia. In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. {ECO:0000250}.

Disease Associations

Nephronophthisis 1 (NPHP1) [MIM:256100]: An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. {ECO:0000269PubMed:10839884}. Note=The disease is caused by mutations affecting the gene represented in this entry.Senior-Loken syndrome 1 (SLSN1) [MIM:266900]: A renal- retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269PubMed:9856524}. Note=The disease is caused by mutations affecting the gene represented in this entry.Joubert syndrome 4 (JBTS4) [MIM:609583]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 4 is a phenotypically mild form. {ECO:0000269PubMed:15138899}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level). {ECO:0000269PubMed:16308564}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 43 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	26 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	43 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005515	protein binding

Biological Process

GO:0007165	signal transduction
GO:0007588	excretion
GO:0007632	visual behavior
GO:0016337	single organismal cell-cell adhesion
GO:0030030	cell projection organization
GO:0030036	actin cytoskeleton organization
GO:0048515	spermatid differentiation
GO:0060041	retina development in camera-type eye

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005911	cell-cell junction
GO:0005912	adherens junction
GO:0005923	tight junction
GO:0016020	membrane
GO:0031514	motile cilium
GO:0032391	photoreceptor connecting cilium